Results 1 to 10 of about 1,062,766 (316)

Challenges of Disorders of Sex Development: Diverse Perceptions across Stakeholders [PDF]

, 2012
Barry A. Kogan, Melissa Gardner, Adrianne Alpern, Laura M. Cohen, Mary Beth Grimley, Alexandra L. Quittner, David E. Sandberg   +6 more
openalex   +1 more source

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype [PDF]

, 2012
Remko Hersmus, Hans Stoop, Erin Turbitt, J. Wolter Oosterhuis, Stenvert L. S. Drop, Andrew Sinclair, Stefan J. White, Leendert H. J. Looijenga   +7 more
openalex   +1 more source

Faculty Opinions recommendation of Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

, 2007
Richard J. Auchus
openalex   +1 more source

Disorders of Sex Development and Hypogonadism: Genetics, Mechanism, and Therapies [PDF]

, 2012
Gil Guerra‐Júnior, Ana Claudia Latrônico, Olaf Hiort, Rodolfo A. Rey   +3 more
openalex   +1 more source

Molecular pathogenesis, diagnosis, and management challenges in complete androgen insensitivity syndrome

Frontiers in Endocrinology
Complete androgen insensitivity syndrome (CAIS) is a rare X-linked recessive disorder of sex development (DSD) caused by androgen receptor (AR) gene mutation and present with female phenotypes with male chromosomal karyotype. Primitive bipotent gonads in
Chunqing Wang, Qinjie Tian
doaj   +1 more source

Reasonable diagnostic pathways in disorders of sex development¹⁾ [PDF]

, 2012
Olaf Hiort
openalex   +1 more source

Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis

, 2011
Stefan J. White, Thomas Ohnesorg, A.J. Notini, Kelly N. Roeszler, Jacqueline Hewitt, Hinda Daggag, Craig A. Smith, Erin Turbitt, Sonja E. Gustin, Jocelyn van den Bergen, Denise C. Miles, Patrick Western, Valerie A. Arboleda, Valérie Schumacher, Lavinia Gordon, Katrina M. Bell, Henrik Bengtsson, Terence P. Speed, John Hutson, Garry L. Warne, Vincent R. Harley, Peter Koopman, Éric Vilain, Andrew Sinclair   +23 more
openalex   +2 more sources

9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism [PDF]

, 2013
Shane C. Quinonez, John M. Park, Raja Rabah, Kailey M. Owens, Beverly M. Yashar, Thomas W. Glover, Catherine E. Keegan   +6 more
openalex   +1 more source

Are We Prepared to Abandon the Idea of Sex Binarism? A Biomedical Perspective

Biomedicine Hub, 2022
Rodolfo A. Rey
doaj   +1 more source

Etiological Classification and Clinical Assessment of Children and Adolescents with Disorders of Sex Development - Original Article

, 2011
Sema Erdoğan, Cengiz Kara, Seyit Ahmet Uçaktürk, Murat Aydın   +3 more
openalex   +1 more source